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Browsing Tag

Frontiers of Medicine

2 posts
HHealth
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5
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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5

  • September 30, 2025
Researchers from School of Basic Medicine Peking Union Medical College have conducted a study entitled “Panoramic variation analysis of a family…
GGenetics
Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance
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Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia: evidence of digenic inheritance

  • September 24, 2025
Newswise — Researchers from Peking Union Medical College and Chinese Academy of Medical Sciences have conducted a study entitled “Identification of…
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